Galactosemia
ICD-10 E74.21 is a billable code used to indicate a diagnosis of galactosemia.
Galactosemia is a rare genetic metabolic disorder characterized by the body's inability to metabolize galactose, a sugar found in milk and dairy products. This condition arises from a deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT), which is crucial for the conversion of galactose to glucose. When galactose accumulates in the body, it can lead to serious complications, including liver damage, cataracts, and intellectual disability. Symptoms typically present in newborns shortly after the ingestion of milk, manifesting as vomiting, diarrhea, jaundice, and lethargy. Early diagnosis through newborn screening is essential to prevent long-term complications. Management involves a strict lifelong diet that eliminates galactose, primarily from dairy products, and careful monitoring of dietary intake to ensure nutritional adequacy. Genetic counseling is also recommended for affected families, as galactosemia is inherited in an autosomal recessive pattern. The condition's complexity lies in its metabolic implications and the need for ongoing dietary management and monitoring.
Detailed history of dietary intake and symptoms, results of newborn screening tests.
Newborn presenting with jaundice and feeding difficulties, follow-up visits for dietary management.
Ensure documentation reflects ongoing dietary compliance and monitoring for complications.
Family history of metabolic disorders, genetic testing results.
Counseling sessions for families with a history of galactosemia.
Document genetic counseling sessions and any recommendations for family members.
Used for confirming a diagnosis of galactosemia.
Document the reason for testing and results.
Genetic specialists should ensure comprehensive family history is included.
The primary treatment for galactosemia is a strict lifelong diet that eliminates all sources of galactose, particularly from milk and dairy products.
